attomol^® Lactose Intolerance -13910C>T Realtime TM 2

The assay attomol^® Lactose Intolerance -13910C>T Realtime TM 2 is used for the supportive diagnosis of lactose intolerance. This test can be used to determine the transition -13910C>T (rs4988235) in the regulatory range of the human lactase gene (MCM6 gene). It is a manual, qualitative, on hydrolysis probes based real-time PCR assay designed for various real-time PCR cyclers. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

The uptake of milk or other lactose-containing foods causes intolerances in some adults. These are often assigned to the syndrome of primary (congenital) lactose intolerance (LIT) manifested in adulthood. The most frequent symptoms are lactose maldigestion, meteorism (tympanites), distension and diarrhoea [Obermayer-Pietsch, 2004, Journal für Mineralstoffwechsel, 11(3):20-23]. Lactose tolerance may be caused by an activating mutation in the MCM6 gene (minichromosome maintenance gene) on chromosome 2, near the lactase gene (lactase phlorizin hydrolasis gene, LPH gene). Activating mutation denotes that carriers of this mutation have a biological advantage over non-mutation carriers. In the case of the mutation to be determined with this test kit, a base exchange from C to T takes place at position -13910 upstream of the lactase gene. Homozygous carriers of the mutation (-13910T/T) having a lifelong lactose tolerance. In heterozygous carriers it is supposed that the inactivity of one allele may be partially compensated [Obermayer-Pietsch, 2004, Journal für Mineralstoffwechsel, 11(3):20-23; Sibley, 2004, Am J Pharmacogenomics, 4(4):239-245]. The presence of the wild type causes reduced lactase activity, which decreases even further with increasing age. As a consequence of the reduced lactase activity lactose is not cleaved effectively into the monosaccharides glucose and galactose. Because not cleaved lactose cannot be reabsorbed by the human organism the symptoms mentioned above can typically be found [Srinivasan and Minocha, 1998, Postgraduate Medicine, 104(3):109-111, 115-116, 122-123]. The loss of lactase activity usually starts after ablactation phase and ends in adult in the state of lactose intolerance. The prevalence of the lactose intolerance varies worldwide strongly between different ethnical groups. In the European population (Caucasian parentage), with a prevalence of less than 30 %, the lactose intolerance is not widely distributed [Sahi, 1994, Scand J Gastroenterol, 202(29):7-20]. In Austria for example, 20-25 % of the people suffer from the primary adult lactose intolerance [Obermayer-Pietsch, 2004, Journal für Mineralstoffwechsel, 11(3):20-23]. Patients of other ethnic origins, especially from the Middle East or certain regions of Africa, may have other polymorphisms in the immediate vicinity of the mutation -13910C>T, e.g. -13907C>G, 13915T>G [Torniainen S. et al., 2009, Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana. BMC Genet., 5, 10:31.].

• PCR-H₂O
• Premix LIT -13910C>T TM 2
• Hot Start Taq DNA Polymerase (2 U/µl)
• instructions for use

You can find more informations about the TaqMan^TM-Technology here.